Variant report

Variant	esv3693437
Chromosome Location	chr2:153484685-153505003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:153495600..153499231-chr2:153499718..153501941,4	MCF-7	breast:
2	chr2:153031040..153034058-chr2:153492264..153495587,7	MCF-7	breast:
3	chr2:153477237..153479391-chr2:153483533..153486073,3	K562	blood:
4	chr2:153032087..153033043-chr2:153491877..153492769,4	MCF-7	breast:
5	chr2:153495557..153498820-chr2:153502340..153505191,3	K562	blood:
6	chr2:153031670..153034258-chr2:153483006..153485613,2	MCF-7	breast:
7	chr2:153495600..153499231-chr2:153499718..153501941,4	MCF-7	breast:
8	chr2:153498882..153503478-chr2:153504081..153508204,8	K562	blood:
9	chr2:153400047..153401814-chr2:153483304..153486097,2	MCF-7	breast:
10	chr2:153480491..153482921-chr2:153485255..153487403,2	K562	blood:
11	chr2:153031601..153033493-chr2:153487450..153489927,2	MCF-7	breast:
12	chr2:153499674..153501480-chr2:153510390..153512975,2	K562	blood:
13	chr2:153495009..153497280-chr2:153502746..153506564,3	K562	blood:
14	chr2:153496498..153499473-chr2:153499493..153501534,3	K562	blood:
15	chr2:153498882..153502328-chr2:153504598..153506576,3	K562	blood:
16	chr2:153483467..153486291-chr2:153489927..153492505,2	K562	blood:
17	chr2:153046118..153047070-chr2:153491857..153492820,2	MCF-7	breast:
18	chr2:153031511..153033349-chr2:153501421..153503057,2	MCF-7	breast:
19	chr2:153046136..153047121-chr2:153492054..153492862,3	MCF-7	breast:
20	chr2:153483467..153486050-chr2:153491005..153492625,2	K562	blood:
21	chr2:152893478..152894026-chr2:153491895..153492878,4	K562	blood:
22	chr2:153483467..153486291-chr2:153489927..153492505,2	K562	blood:
23	chr2:153031090..153033664-chr2:153502377..153505718,4	MCF-7	breast:
24	chr2:153031626..153033929-chr2:153482275..153486045,3	MCF-7	breast:
25	chr2:153503515..153505715-chr2:153517522..153520304,2	K562	blood:
26	chr2:153503464..153505939-chr2:153511056..153513518,3	MCF-7	breast:
27	chr2:153498882..153503478-chr2:153504081..153508204,8	K562	blood:
28	chr2:153496498..153499473-chr2:153499493..153501534,3	K562	blood:
29	chr2:153500933..153503507-chr2:153514364..153517064,2	K562	blood:
30	chr2:153046089..153047118-chr2:153491839..153492506,3	K562	blood:
31	chr2:153495557..153498820-chr2:153502340..153505191,3	K562	blood:
32	chr2:153046132..153047527-chr2:153483800..153484839,4	K562	blood:
33	chr2:153498882..153502328-chr2:153504598..153506576,3	K562	blood:
34	chr2:153501231..153504179-chr2:153533212..153536871,4	K562	blood:
35	chr2:153483467..153486050-chr2:153491005..153492625,2	K562	blood:
36	chr2:153495009..153497280-chr2:153502746..153506564,3	K562	blood:

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FMNL2	hsa-miR-124-3p	chr2:153504584-153504603

Variant related genes	Relation type
ENSG00000196504	chromatin interactions
ENSG00000115145	chromatin interactions
ENSG00000157827	chromatin interactions

Extended variants
information (count: 783 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3811570	chr2:153484685-153484686	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114114415	chr2:153484696-153484697	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563249465	chr2:153484710-153484711	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560415368	chr2:153484725-153484726	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545036688	chr2:153484736-153484737	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558491333	chr2:153484753-153484754	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75505189	chr2:153484778-153484779	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371959631	chr2:153484825-153484826	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375548308	chr2:153484835-153484836	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369673616	chr2:153484843-153484844	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543308996	chr2:153484859-153484860	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569553550	chr2:153484864-153484865	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200459731	chr2:153484903-153484904	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529121191	chr2:153484975-153484976	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375521873	chr2:153484993-153484994	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201111736	chr2:153485013-153485014	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369771939	chr2:153485021-153485022	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559523914	chr2:153485072-153485073	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372586571	chr2:153485089-153485090	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199812039	chr2:153485097-153485098	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79016242	chr2:153485098-153485099	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571214241	chr2:153485119-153485120	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531246198	chr2:153485126-153485127	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551030883	chr2:153485137-153485138	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10208744	chr2:153485161-153485162	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79823270	chr2:153485171-153485172	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115896492	chr2:153485175-153485176	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373456449	chr2:153485177-153485178	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538721262	chr2:153485209-153485210	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558534272	chr2:153485223-153485224	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575586457	chr2:153485259-153485260	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs544588851	chr2:153485266-153485267	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs142012984	chr2:153485267-153485268	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs150655548	chr2:153485276-153485277	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs186491687	chr2:153485277-153485278	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139268129	chr2:153485401-153485402	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs528197254	chr2:153485428-153485429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191757953	chr2:153485437-153485438	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564983674	chr2:153485491-153485492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150980499	chr2:153485525-153485526	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530471289	chr2:153485566-153485567	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs75426963	chr2:153485714-153485715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576747033	chr2:153485733-153485734	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567901167	chr2:153485768-153485769	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs530386484	chr2:153485769-153485770	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540634630	chr2:153485809-153485810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570469489	chr2:153485810-153485811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546814917	chr2:153485819-153485820	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs4146903	chr2:153485865-153485866	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181443443	chr2:153485894-153485895	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
7	chr2:153468800-153492000	Weak transcription	Liver	Liver
8	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
9	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
10	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
11	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:153469600-153487200	Weak transcription	Fetal Thymus	thymus
13	chr2:153469600-153496800	Weak transcription	HSMM	muscle
14	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:153473000-153500600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:153473800-153496400	Weak transcription	Osteobl	bone
18	chr2:153474400-153486200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:153474400-153505000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:153474800-153484800	Weak transcription	Ovary	ovary
21	chr2:153475800-153493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:153476600-153492800	Weak transcription	Gastric	stomach
23	chr2:153477200-153484800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:153477600-153489800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:153477800-153486200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:153477800-153488000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:153477800-153488200	Weak transcription	Pancreas	Pancrea
28	chr2:153477800-153488400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:153477800-153488400	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:153477800-153493800	Weak transcription	HSMMtube	muscle
31	chr2:153477800-153496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:153477800-153496600	Weak transcription	Aorta	Aorta
33	chr2:153478200-153487000	Weak transcription	Brain Germinal Matrix	brain
34	chr2:153478600-153488600	Weak transcription	Right Ventricle	heart
35	chr2:153478800-153486400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:153479400-153496200	Weak transcription	NH-A	brain
37	chr2:153479800-153484800	Weak transcription	Fetal Brain Female	brain
38	chr2:153479800-153488600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:153481000-153488000	Strong transcription	HepG2	liver
40	chr2:153481000-153490200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:153481200-153491200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:153481200-153493400	Weak transcription	Fetal Brain Male	brain
43	chr2:153481200-153502200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:153481200-153502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:153481400-153490400	Strong transcription	NHEK	skin
46	chr2:153481400-153502400	Strong transcription	Placenta	Placenta
47	chr2:153481400-153503000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:153481600-153489400	Strong transcription	HMEC	breast
49	chr2:153482000-153487000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:153482000-153490600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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